Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Cerebrovascular Disorders (D002561)
Parent Node: Ear Diseases (D004427)
Parent Node: Eye Manifestations (D005132)
Parent Node: Neurologic Manifestations (D009461)
Parent Node: Retinal Artery Occlusion (D015356)
Parent Node: Vision Disorders (D014786)
..Starting node ..Susac Syndrome (D055955)
Child Nodes:
Sister Nodes:
..Alice in Wonderland Syndrome (D062026)
..Amblyopia (D000550) 2
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Blindness (D001766) 39
..Color Vision Defects (D003117) 11
..Creutzfeldt-Jakob Disease, Heidenhain Variant (C566981)
..Diplopia (D004172)
..Enhanced S-Cone Syndrome (C564835)
..Hemianopsia (D006423)
..Night Blindness (D009755) 14
..Photophobia (D020795) 2
..Scotoma (D012607) 1
..Siegler Brewer Carey syndrome (C537335)
..SPATIAL VISUALIZATION, APTITUDE FOR (OMIM:313000)
..Susac Syndrome (D055955)
..Vision, Low (D015354)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10779
Name:	Susac Syndrome
Definition:	A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss.
Alternative IDs:
ParentIDs:	MESH:D002561\|MESH:D004427\|MESH:D005132\|MESH:D009461\|MESH:D014786\|MESH:D015356
TreeNumbers:	C09.218.855 \|C10.228.140.300.787 \|C10.597.825 \|C11.768.400.500 \|C11.966.858 \|C14.907.137.780.500 \|C23.888.307.750 \|C23.888.592.848
Synonyms:	Retinocochleocerebral Vasculopathies \|Retinocochleocerebral Vasculopathy \|Susac's Syndrome \|Susacs Syndrome \|Syndrome, Susac \|Syndrome, Susac's \|Vasculopathies, Retinocochleocerebral \|Vasculopathy, Retinocochleocerebral
Slim Mappings:	Cardiovascular disease\|Ear-nose-throat disease\|Eye disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D055955 MeSH: D055955 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants